Pyogenic arthritis, pyoderma gangrenosum and acne

From WikiMD's Wellness Encyclopedia

Alternate names[edit | edit source]

PAPA syndrome; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; PAPAS; Familial recurrent arthritis; FRA

Definition[edit | edit source]

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.

Epidemiology[edit | edit source]

To date, only 34 patients with PAPA syndrome have been reported worldwide, from five families (two in the USA, one in Italy, one in the Netherlands, and one in New Zealand).

Cause[edit | edit source]

  • The gene responsible for the syndrome, the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene (previously known as the CD2 binding protein 1 (CD2BP1) gene), was cloned in 2002.
  • Only two mutations account for the known cases.
  • Recently, the PSTPIP1 protein has been demonstrated to bind pyrin/marenostrin (P/M), the protein encoded by the MEFV gene, mutations in which cause Familial Mediterranean Fever.
  • PAPA-associated PSTPIP1 mutants exhibit increased binding to P/M.

Inheritance[edit | edit source]

Autosomal dominant pattern, a 50/50 chance.

PAPA syndrome is inherited in an autosomal dominant manner.

Signs and symptoms[edit | edit source]

  • The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond.
  • PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction.
  • Synovial fluid is purulent with neutrophil accumulation, but cultures are invariably negative.
  • Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously.
  • Other less commonly associated features include adult-onset insulin-dependent diabetes mellitus, proteinuria, and abscess formation at the site of parenteral injections (pathergy).

Clinical presentation[edit | edit source]

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

  • Acne
  • Arthritis(Joint inflammation)
  • Fatigue(Tired)
  • Fever
  • Limitation of joint mobility(Decreased joint mobility)
  • Pustule(Pimple)
  • Skin ulcer(Open skin sore)

30%-79% of people have these symptoms

5%-29% of people have these symptoms

  • Crohn's disease
  • Myositis(Muscle inflammation)
  • Proteinuria(High urine protein levels)
  • Type I diabetes mellitus(Type 1 diabetes)

1%-4% of people have these symptoms Allergy

Diagnosis[edit | edit source]

Clinical features along with the familial tendency may be enough to make a diagnosis. Genetic testing may also be used.

Differential diagnosis

Differential diagnosis for PAPA syndrome should include juvenile idiopathic arthritis and periodic fever.

Treatment[edit | edit source]

  • Arthritis and skin lesions have sometimes been reported to be responsive to glucocorticoids.
  • However, two alternative therapeutics have been suggested so far.
  • In one report, the disease underwent rapid and sustained clinical remission after treatment with the tumor necrosis factor inhibitor, etanercept.
  • Another recent paper described the effect of recombinant human interleukin (IL)-1 receptor antagonist (anakinra), which appeared to be an effective therapy to treat disease flares in PAPA syndrome.

NIH genetic and rare disease info[edit source]

Pyogenic arthritis, pyoderma gangrenosum and acne is a rare disease.


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